The deletion allele of the angiotensin I converting enzyme gene as a genetic susceptibility factor for cognitive impairment

Amouyel, Philippe; Richard, Florence; Cottel, Dominique; Amant, Carole; Codron, Valérie; Helbecque, Nicole

doi:10.1016/0304-3940(96)13092-5

Cited by 66 publications

(34 citation statements)

References 15 publications

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“…The same results were found in Finnish study [27], British study [28,29], Italian study [30], and in Israeli Arab community [31]. In the papers by Amouyel et al [32], Palumbo et al [33], Zhang et al [34] and Sleegers et al [35] it has been evidenced that ACE*D allele represents a genetic susceptibility factor for cognitive impairment, independent of type of dementia.…”

Section: Discussionsupporting

confidence: 63%

ACE I/D polymorphism in Alzheimer’s disease

et al. 2008

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Angiotensin-converting enzyme (ACE) has been reported to show altered activity in patients with neurological diseases. The recent studies found that a 287 bp insertion/deletion (I/D) polymorphism of the ACE gene may be associated with susceptibility to Alzheimer's disease (AD) but the results have been heterogenous between studies in Europe. In the present study we examined for the first time the association of ACE I/D polymorphism along with APOE genotype in 70 sporadic AD and 126 control subjects in Slovak Caucasians (Central Europe). An increased risk for AD was observed in subjects with at least one APOE*E4 allele (OR=3.99, 95% CI=1.97-8.08). No significant differences for the genotype distribution or the allele frequency were revealed comparing controls and patients for ACE gene. Gene-gene interaction analysis showed increase of the risk to develop AD in subjects carrying both the ACE DD genotype and the APOE*E4 allele (OR=10.32, 95% C.I. 2.67-39.81).

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Section: Discussionsupporting

confidence: 63%

ACE I/D polymorphism in Alzheimer’s disease

et al. 2008

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“…33 Two groups with highly contrasted levels of cognitive functions were selected from the ELDNOR population: a group of demented individuals (n ¼ 230) including all ELDNOR subjects with an MMSE score less than 10 and/or a diagnosis of dementia according to criteria given in the Diagnostic and Statistical Manual of Mental Disorders, 3rd edn., revised (DSM-III-R), and a group of controls (n ¼ 250) including all ELDNOR subjects with an MMSEX25 and without any symptom of dementia. This population can be divided according to the type of dementia defined by the International Classification of Disease Release 9 (ICD9).…”

Section: Studymentioning

confidence: 99%

Islet-brain1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease

et al. 2003

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Islet-brain1 (IB1) or c-Jun NH2 terminal kinase interacting protein-1 (JIP-1), the product of the MAPK8IP1 gene, functions as a neuronal scaffold protein to allow signalling specificity. IB1/ JIP-1 interacts with many cellular components including the reelin receptor ApoER2, the lowdensity lipoprotein receptor-related protein (LRP), kinesin and the Alzheimer's amyloid precursor protein. Coexpression of IB1/JIP-1 with other components of the c-Jun NH2 terminal-kinase (JNK) pathway activates the JNK activity; conversely, selective disruption of IB1/JIP-1 in mice reduces the stress-induced apoptosis of neuronal cells. We therefore hypothesized that IB1/JIP-1 is a risk factor for Alzheimer's disease (AD). By immunocytochemistry, we first colocalized the presence of IB1/JIP-1 with JNK and phosphorylated tau in neurofibrillary tangles. We next identified a À499A4G polymorphism in the 5' regulatory region of the MAPK8IP1 gene. In two separate French populations the À499A4G polymorphism of MAPK8IP1 was not associated with an increased risk to AD. However, when stratified on the þ 766C4T polymorphism of exon 3 of the LRP gene, the IB1/JIP-1 polymorphism was strongly associated with AD in subjects bearing the CC genotype in the LRP gene. The functional consequences of the -499A4G polymorphism of MAPK8IP1 was investigated in vitro. In neuronal cells, the G allele increased transcriptional activity and was associated with an enhanced binding activity. Taken together, these data indicate that the increased transcriptional activity in the presence of the G allele of MAPK8IP1 is a risk factor to the onset of in patients bearing the CC genotype of the LRP gene.

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“…The population study consisted of individuals aged between 60 and 105 years in a large representative sample (n = 1051), living in retirement home, whose cognitive functions and health status were systematically registered in the French Elderly in the North (ELDNOR) study. 11 From this population-based study, a sub-population of 254 individuals was first used for the linkage disequilibrium (LD) estimation between the S100b single nucleotide polymorphisms (SNPs) and for the systematic screening of their impact on the cognitive performances (age = 80.678.5 years, 33% of men, mini mental-state examination (MMSE) > 24). The analysis of the SNPs showing a significant effect on cognitive performances in this first screening was next extended to 815 individuals exhibiting a MMSE > 10.…”

Section: Populationsmentioning

confidence: 99%

Evidence for the association of the S100β gene with low cognitive performance and dementia in the elderly

et al. 2007

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Variations in the S100b gene may be instrumental in producing a continuum from mild cognitive decline to overt dementia. After screening 25 single nucleotide polymorphisms (SNPs) in S100b, we observed association of the rs2300403 intron 2 SNP with poorer cognitive function in three independent populations. Moreover, we detected a significant association of this SNP with increased risk of developing dementia or Alzheimer's disease (AD) in six independent populations, especially in women and in the oldest. Furthermore, we characterised a new primate-specific exon within intron 2 (the corresponding mRNA isoform was called S100b2). S100b2 expression was increased in AD brain compared with controls, and the rs2300403 SNP was associated with elevated levels of S100b2 mRNA in AD brains, especially in women. Therefore, this genetic variant in S100b increases the risk of low cognitive performance and dementia, possibly by favouring a splicing event increasing S100b2 isoform expression in the brain.

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The deletion allele of the angiotensin I converting enzyme gene as a genetic susceptibility factor for cognitive impairment

Cited by 66 publications

References 15 publications

ACE I/D polymorphism in Alzheimer’s disease

ACE I/D polymorphism in Alzheimer’s disease

Islet-brain1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease

Evidence for the association of the S100β gene with low cognitive performance and dementia in the elderly

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